Mutagenetix > Incidental Mutation

Incidental Mutation 'R8706:Myh7b'

669264

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

MMRRC Submission

068560-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8706 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155453132-155476227 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 155453669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092995]

AlphaFold

A2AQP0

Predicted Effect

probably null
Transcript: ENSMUST00000092995

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	32	72	4.7e-14	PFAM
MYSc	78	786	N/A	SMART
IQ	787	809	2.6e0	SMART
Pfam:Myosin_tail_1	850	1931	5.5e-149	PFAM

Meta Mutation Damage Score

0.9492

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (32/32)

MGI Phenotype

FUNCTION: This gene encodes a myosin heavy chain. The encoded protein forms a hexamer comprised of two heavy chains, two alkali light chains, and two regulatory light chain components. This complex functions in muscle contraction. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adpgk	C	T	9: 59,222,456 (GRCm39)	T461I	probably benign	Het
Adra2b	A	G	2: 127,206,487 (GRCm39)	T335A	probably benign	Het
Ap3b1	T	C	13: 94,545,353 (GRCm39)		probably null	Het
C1rl	T	C	6: 124,470,191 (GRCm39)		probably null	Het
Ccdc142	A	G	6: 83,080,678 (GRCm39)	E470G	probably damaging	Het
Ccm2	T	A	11: 6,539,447 (GRCm39)	I163N	possibly damaging	Het
Cdk5rap2	A	T	4: 70,157,562 (GRCm39)	F1596L	probably benign	Het
Chrna4	A	T	2: 180,679,307 (GRCm39)	F47I	probably damaging	Het
Cx3cl1	A	G	8: 95,506,876 (GRCm39)	T294A	probably benign	Het
Dcun1d4	C	T	5: 73,714,658 (GRCm39)	T275M	probably damaging	Het
Dpp4	T	C	2: 62,208,647 (GRCm39)	I166V	probably benign	Het
Dynap	C	T	18: 70,374,062 (GRCm39)	E155K	unknown	Het
Fam171b	A	G	2: 83,690,864 (GRCm39)	T276A	probably benign	Het
Fmo4	G	A	1: 162,621,592 (GRCm39)	Q540*	probably null	Het
Gtf2i	C	A	5: 134,278,733 (GRCm39)	V633F	probably damaging	Het
Kmt5c	G	T	7: 4,749,153 (GRCm39)	R262L	probably damaging	Het
Lgr5	A	G	10: 115,288,610 (GRCm39)	L678P	probably benign	Het
Mrps27	T	C	13: 99,541,508 (GRCm39)	V163A	probably damaging	Het
Myo15a	A	G	11: 60,370,443 (GRCm39)	T1068A	probably benign	Het
Ncor2	T	C	5: 125,145,010 (GRCm39)	E369G	unknown	Het
Neb	T	A	2: 52,181,326 (GRCm39)	M1094L	probably benign	Het
Osbpl10	T	C	9: 115,036,688 (GRCm39)	L228P	probably damaging	Het
Phip	T	A	9: 82,787,765 (GRCm39)	R799S	possibly damaging	Het
Prkn	T	C	17: 11,456,472 (GRCm39)	S99P	probably benign	Het
Rassf5	G	T	1: 131,172,782 (GRCm39)	T29N	probably benign	Het
Spata31g1	A	G	4: 42,971,776 (GRCm39)	K370E	probably benign	Het
Tmprss11g	T	A	5: 86,644,404 (GRCm39)	S147C	probably damaging	Het
Ttn	G	A	2: 76,569,134 (GRCm39)	T27253I	probably damaging	Het
Vmn1r59	A	T	7: 5,457,715 (GRCm39)	V15E	possibly damaging	Het
Wnt6	A	C	1: 74,821,947 (GRCm39)	D176A	possibly damaging	Het

Other mutations in Myh7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00931:Myh7b	APN	2	155,472,212 (GRCm39)	missense	probably damaging	0.99
IGL01604:Myh7b	APN	2	155,474,327 (GRCm39)	missense	probably damaging	0.96
IGL02179:Myh7b	APN	2	155,456,411 (GRCm39)	missense	probably benign	0.02
IGL02729:Myh7b	APN	2	155,467,609 (GRCm39)	missense	probably damaging	1.00
IGL02804:Myh7b	APN	2	155,467,643 (GRCm39)	missense	probably damaging	1.00
IGL02851:Myh7b	APN	2	155,470,747 (GRCm39)	missense	probably damaging	1.00
IGL02956:Myh7b	APN	2	155,467,874 (GRCm39)	missense	possibly damaging	0.95
IGL02956:Myh7b	APN	2	155,474,823 (GRCm39)	missense	probably damaging	1.00
IGL02992:Myh7b	APN	2	155,463,330 (GRCm39)	missense	probably damaging	0.99
IGL03060:Myh7b	APN	2	155,474,671 (GRCm39)	missense	probably damaging	1.00
IGL03061:Myh7b	APN	2	155,462,031 (GRCm39)	missense	possibly damaging	0.93
IGL03226:Myh7b	APN	2	155,462,403 (GRCm39)	nonsense	probably null
IGL03246:Myh7b	APN	2	155,459,792 (GRCm39)	missense	probably damaging	1.00
IGL03382:Myh7b	APN	2	155,465,399 (GRCm39)	missense	probably damaging	1.00
euclidian	UTSW	2	155,475,319 (GRCm39)	missense	probably benign	0.32
imaginary	UTSW	2	155,474,175 (GRCm39)	missense	probably benign	0.36
Irrational	UTSW	2	155,472,592 (GRCm39)	unclassified	probably benign
Muscoli	UTSW	2	155,462,038 (GRCm39)	nonsense	probably null
R0015:Myh7b	UTSW	2	155,464,206 (GRCm39)	missense	probably damaging	1.00
R0015:Myh7b	UTSW	2	155,464,206 (GRCm39)	missense	probably damaging	1.00
R0109:Myh7b	UTSW	2	155,453,594 (GRCm39)	missense	possibly damaging	0.92
R0309:Myh7b	UTSW	2	155,472,592 (GRCm39)	unclassified	probably benign
R0567:Myh7b	UTSW	2	155,468,318 (GRCm39)	missense	probably damaging	1.00
R0619:Myh7b	UTSW	2	155,453,642 (GRCm39)	missense	probably benign	0.00
R0927:Myh7b	UTSW	2	155,462,040 (GRCm39)	missense	probably damaging	1.00
R0973:Myh7b	UTSW	2	155,462,347 (GRCm39)	missense	probably benign
R0973:Myh7b	UTSW	2	155,462,347 (GRCm39)	missense	probably benign
R0974:Myh7b	UTSW	2	155,462,347 (GRCm39)	missense	probably benign
R1137:Myh7b	UTSW	2	155,464,634 (GRCm39)	missense	probably damaging	1.00
R1261:Myh7b	UTSW	2	155,463,003 (GRCm39)	missense	probably benign	0.00
R1268:Myh7b	UTSW	2	155,455,966 (GRCm39)	nonsense	probably null
R1537:Myh7b	UTSW	2	155,473,707 (GRCm39)	missense	probably damaging	0.96
R1632:Myh7b	UTSW	2	155,462,445 (GRCm39)	missense	probably benign	0.04
R1694:Myh7b	UTSW	2	155,455,113 (GRCm39)	missense	probably damaging	0.99
R1697:Myh7b	UTSW	2	155,462,054 (GRCm39)	missense	probably damaging	1.00
R1730:Myh7b	UTSW	2	155,467,592 (GRCm39)	missense	possibly damaging	0.73
R1762:Myh7b	UTSW	2	155,472,778 (GRCm39)	missense	probably damaging	0.96
R1783:Myh7b	UTSW	2	155,467,592 (GRCm39)	missense	possibly damaging	0.73
R2105:Myh7b	UTSW	2	155,471,377 (GRCm39)	missense	probably benign	0.00
R2140:Myh7b	UTSW	2	155,462,043 (GRCm39)	missense	probably damaging	1.00
R2971:Myh7b	UTSW	2	155,474,175 (GRCm39)	missense	probably benign	0.36
R3838:Myh7b	UTSW	2	155,474,909 (GRCm39)	missense	probably damaging	1.00
R4074:Myh7b	UTSW	2	155,460,678 (GRCm39)	missense	probably damaging	0.96
R4191:Myh7b	UTSW	2	155,475,319 (GRCm39)	missense	probably benign	0.32
R4689:Myh7b	UTSW	2	155,472,434 (GRCm39)	missense	possibly damaging	0.75
R4695:Myh7b	UTSW	2	155,456,097 (GRCm39)	missense	probably damaging	1.00
R4697:Myh7b	UTSW	2	155,471,242 (GRCm39)	missense	probably damaging	1.00
R4771:Myh7b	UTSW	2	155,468,314 (GRCm39)	nonsense	probably null
R4794:Myh7b	UTSW	2	155,465,186 (GRCm39)	missense	probably benign	0.00
R4842:Myh7b	UTSW	2	155,475,909 (GRCm39)	missense	probably benign	0.45
R4871:Myh7b	UTSW	2	155,455,420 (GRCm39)	missense	probably benign	0.18
R5022:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5023:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5025:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5050:Myh7b	UTSW	2	155,473,670 (GRCm39)	missense	probably benign	0.00
R5055:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5056:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5161:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5284:Myh7b	UTSW	2	155,474,234 (GRCm39)	missense	probably benign
R5422:Myh7b	UTSW	2	155,472,954 (GRCm39)	missense	probably damaging	0.99
R5505:Myh7b	UTSW	2	155,474,592 (GRCm39)	missense	probably benign	0.01
R5946:Myh7b	UTSW	2	155,463,315 (GRCm39)	missense	probably damaging	1.00
R6089:Myh7b	UTSW	2	155,464,409 (GRCm39)	missense	probably damaging	1.00
R6103:Myh7b	UTSW	2	155,460,663 (GRCm39)	missense	probably damaging	1.00
R6233:Myh7b	UTSW	2	155,473,719 (GRCm39)	missense	possibly damaging	0.85
R6292:Myh7b	UTSW	2	155,474,316 (GRCm39)	missense	probably damaging	1.00
R6350:Myh7b	UTSW	2	155,470,680 (GRCm39)	missense	probably benign	0.00
R6484:Myh7b	UTSW	2	155,470,563 (GRCm39)	missense	probably benign	0.05
R6760:Myh7b	UTSW	2	155,462,038 (GRCm39)	nonsense	probably null
R6896:Myh7b	UTSW	2	155,464,488 (GRCm39)	critical splice donor site	probably null
R6945:Myh7b	UTSW	2	155,464,152 (GRCm39)	missense	possibly damaging	0.95
R7020:Myh7b	UTSW	2	155,473,671 (GRCm39)	missense	possibly damaging	0.56
R7052:Myh7b	UTSW	2	155,456,053 (GRCm39)	missense	probably damaging	1.00
R7102:Myh7b	UTSW	2	155,464,119 (GRCm39)	missense	probably damaging	1.00
R7248:Myh7b	UTSW	2	155,464,106 (GRCm39)	missense	probably damaging	1.00
R7303:Myh7b	UTSW	2	155,460,660 (GRCm39)	missense	probably damaging	1.00
R7360:Myh7b	UTSW	2	155,474,460 (GRCm39)	missense	probably benign	0.38
R7652:Myh7b	UTSW	2	155,474,156 (GRCm39)	missense	probably damaging	0.99
R7678:Myh7b	UTSW	2	155,459,698 (GRCm39)	splice site	probably null
R7703:Myh7b	UTSW	2	155,462,356 (GRCm39)	missense	probably null	1.00
R7711:Myh7b	UTSW	2	155,462,323 (GRCm39)	missense	probably damaging	1.00
R7923:Myh7b	UTSW	2	155,467,886 (GRCm39)	missense	probably benign
R7967:Myh7b	UTSW	2	155,456,119 (GRCm39)	splice site	probably null
R8045:Myh7b	UTSW	2	155,455,101 (GRCm39)	missense	probably benign	0.00
R8176:Myh7b	UTSW	2	155,467,886 (GRCm39)	missense	probably benign	0.06
R8272:Myh7b	UTSW	2	155,474,824 (GRCm39)	missense	probably damaging	1.00
R8560:Myh7b	UTSW	2	155,465,124 (GRCm39)	missense	possibly damaging	0.93
R8824:Myh7b	UTSW	2	155,472,301 (GRCm39)	missense	probably benign	0.02
R8832:Myh7b	UTSW	2	155,475,182 (GRCm39)	missense	probably benign	0.00
R9079:Myh7b	UTSW	2	155,465,174 (GRCm39)	missense	probably damaging	0.97
R9151:Myh7b	UTSW	2	155,474,439 (GRCm39)	missense	probably damaging	1.00
R9311:Myh7b	UTSW	2	155,463,253 (GRCm39)	missense	probably damaging	1.00
R9332:Myh7b	UTSW	2	155,470,722 (GRCm39)	missense	probably damaging	1.00
R9357:Myh7b	UTSW	2	155,463,268 (GRCm39)	missense	probably damaging	1.00
R9388:Myh7b	UTSW	2	155,472,983 (GRCm39)	missense	probably benign	0.28
R9583:Myh7b	UTSW	2	155,459,641 (GRCm39)	missense	probably damaging	1.00
R9657:Myh7b	UTSW	2	155,455,963 (GRCm39)	missense	probably damaging	1.00
R9738:Myh7b	UTSW	2	155,455,963 (GRCm39)	missense	probably damaging	1.00
X0013:Myh7b	UTSW	2	155,473,089 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATACTCCAGTGTGGGTCTAGC -3'
(R):5'- AGCAAGGTGACATTGTCTCC -3'

Sequencing Primer
(F):5'- AGTGTGGGTCTAGCTCCCC -3'
(R):5'- GTCTCCTTTTATAGAGGAACAGCC -3'

Posted On

2021-04-30